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Aliases for NLRP6 Gene

Aliases for NLRP6 Gene

  • NLR Family Pyrin Domain Containing 6 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 6 2 3
  • NACHT, Leucine Rich Repeat And PYD Containing 6 2 3
  • PYRIN-Containing APAF1-Like Protein 5 3 4
  • Angiotensin II/Vasopressin Receptor 3 4
  • PYPAF5 3 4
  • NALP6 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 6 3
  • NAVR/AVR 3
  • CLR11.4 3
  • NAVR 3
  • PAN3 3
  • AVR 3

External Ids for NLRP6 Gene

Previous HGNC Symbols for NLRP6 Gene

  • NALP6

Previous GeneCards Identifiers for NLRP6 Gene

  • GC11P000098

Summaries for NLRP6 Gene

Entrez Gene Summary for NLRP6 Gene

  • The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

GeneCards Summary for NLRP6 Gene

NLRP6 (NLR Family Pyrin Domain Containing 6) is a Protein Coding gene. Diseases associated with NLRP6 include Subclavian Steal Syndrome and Lateral Myocardial Infarction. Among its related pathways are Toll-Like receptor Signaling Pathways. GO annotations related to this gene include vasopressin receptor activity. An important paralog of this gene is NLRP12.

UniProtKB/Swiss-Prot for NLRP6 Gene

  • As the sensor component of the NLRP6 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP6, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. The precise NLRP6 activation stimulus has not been identified yet (By similarity) (PubMed:12387869). Essential for gut mucosal self-renewal and proliferation. Maintains intestinal homeostasis and a healthy intestinal microbiota. This function is, at least partially, mediated by IL18, and not IL1B, produced by nonhematopoietic cells. Influences intestinal barrier function and microbial homeostasis through the regulation of goblet cell mucus secretion. Acts by promoting autophagy in goblet cells, an essential step for mucus granule exocytosis. Its role in goblet cell physiology is inflammasome-dependent, but IL1B- and IL18-independent. During systemic bacterial infections, may negatively regulate inflammatory signaling and inhibit the influx of monocytes and neutrophils to the circulation and to the peritoneum. May promote peripheral nerve recovery following injury via an inflammasome-independent mechanism (By similarity).

Gene Wiki entry for NLRP6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP6 Gene

Genomics for NLRP6 Gene

Regulatory Elements for NLRP6 Gene


Enhancers around NLRP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for NLRP6 Gene

Chromosome:
11
Start:
278,365 bp from pter
End:
285,388 bp from pter
Size:
7,024 bases
Orientation:
Plus strand

Genomic View for NLRP6 Gene

Genes around NLRP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP6 Gene

Proteins for NLRP6 Gene

  • Protein details for NLRP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59044-NLRP6_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 6
    Protein Accession:
    P59044
    Secondary Accessions:
    • A8K9F3
    • E9PJZ8

    Protein attributes for NLRP6 Gene

    Size:
    892 amino acids
    Molecular mass:
    98768 Da
    Quaternary structure:
    • Sensor component of NLRP6 inflammasomes. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. The core of NLRP6 inflammasomes consists of a signal sensor component (NLRP6), an adapter (ASC/PYCARD), which recruits an effector proinflammatory caspase (CASP1 and, possibly, CASP4 and CASP5). Within the complex, NLRP6 and PYCARD interact via their respective pyrin domains. This interaction initiates speck formation (nucleation) which greatly enhances further addition of soluble PYCARD molecules to the speck in a prion-like polymerization process. NLRP6 localizes at the end of each PYCARD filament. Clustered PYCARD nucleates the formation of CASP1 filaments through the interaction of their respective CARD domains, acting as a platform for CASP1 polymerization. CASP1 filament formation increases local enzyme concentration, resulting in trans-autocleavage and activation. Active CASP1 then processes IL1B and IL18 precursors, leading to the release of mature cytokines in the extracellular milieu and inflammatory response. In this complex, the sensor protein is sub-stoichiometric to PYCARD, and PYCARD is further substoichiometric to CASP1, suggesting amplifications of signal transduction from the sensor, via the adapter, to the effector.

    Alternative splice isoforms for NLRP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP6 Gene

Post-translational modifications for NLRP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP6 Gene

Antibody Products

No data available for DME Specific Peptides for NLRP6 Gene

Domains & Families for NLRP6 Gene

Gene Families for NLRP6 Gene

Suggested Antigen Peptide Sequences for NLRP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59044

UniProtKB/Swiss-Prot:

NLRP6_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP6: view

Function for NLRP6 Gene

Molecular function for NLRP6 Gene

UniProtKB/Swiss-Prot Function:
As the sensor component of the NLRP6 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP6, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. The precise NLRP6 activation stimulus has not been identified yet (By similarity) (PubMed:12387869). Essential for gut mucosal self-renewal and proliferation. Maintains intestinal homeostasis and a healthy intestinal microbiota. This function is, at least partially, mediated by IL18, and not IL1B, produced by nonhematopoietic cells. Influences intestinal barrier function and microbial homeostasis through the regulation of goblet cell mucus secretion. Acts by promoting autophagy in goblet cells, an essential step for mucus granule exocytosis. Its role in goblet cell physiology is inflammasome-dependent, but IL1B- and IL18-independent. During systemic bacterial infections, may negatively regulate inflammatory signaling and inhibit the influx of monocytes and neutrophils to the circulation and to the peritoneum. May promote peripheral nerve recovery following injury via an inflammasome-independent mechanism (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by rosiglitazone, a PPARG agonist, in Caco2 and HCT116 colorectal carcinoma cells (PubMed:21088234, PubMed:23470617). Down-regulated by CRH (at protein level) (PubMed:23470617).

Gene Ontology (GO) - Molecular Function for NLRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005000 vasopressin receptor activity ISS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP6: view
genes like me logo Genes that share phenotypes with NLRP6: view

Animal Models for NLRP6 Gene

MGI Knock Outs for NLRP6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NLRP6 Gene

Localization for NLRP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP6 Gene

Cytoplasm. Inflammasome. Cell membrane. Nucleus membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRP6 gene
Compartment Confidence
cytosol 4
plasma membrane 3
nucleus 3
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NLRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with NLRP6: view

Pathways & Interactions for NLRP6 Gene

genes like me logo Genes that share pathways with NLRP6: view

Pathways by source for NLRP6 Gene

1 KEGG pathway for NLRP6 Gene

Interacting Proteins for NLRP6 Gene

Gene Ontology (GO) - Biological Process for NLRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002862 negative regulation of inflammatory response to antigenic stimulus IEA --
GO:0006954 inflammatory response IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0009617 response to bacterium IEA --
genes like me logo Genes that share ontologies with NLRP6: view

No data available for SIGNOR curated interactions for NLRP6 Gene

Transcripts for NLRP6 Gene

mRNA/cDNA for NLRP6 Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NLRP6 Gene

NLR family, pyrin domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP6 Gene

No ASD Table

Relevant External Links for NLRP6 Gene

GeneLoc Exon Structure for
NLRP6
ECgene alternative splicing isoforms for
NLRP6

Expression for NLRP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NLRP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP6 Gene

This gene is overexpressed in Whole Blood (x25.3) and Small Intestine - Terminal Ileum (x18.3).

Protein differential expression in normal tissues from HIPED for NLRP6 Gene

This gene is overexpressed in Gallbladder (42.6) and Heart (25.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NLRP6 Gene



Protein tissue co-expression partners for NLRP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of NLRP6 Gene:

NLRP6

SOURCE GeneReport for Unigene cluster for NLRP6 Gene:

Hs.352611

mRNA Expression by UniProt/SwissProt for NLRP6 Gene:

P59044-NLRP6_HUMAN
Tissue specificity: Expressed in peripheral blood leukocytes, predominantly in granulocytes and, at lower levels, in CD4(+) and CD8(+) T-cells. Expressed in colonic myofibroblasts (at protein level) (PubMed:21593405).

Evidence on tissue expression from TISSUES for NLRP6 Gene

  • Heart(2.5)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with NLRP6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP6 Gene

Orthologs for NLRP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP6 34 35
  • 97.36 (n)
cow
(Bos Taurus)
Mammalia NLRP6 34 35
  • 82.24 (n)
dog
(Canis familiaris)
Mammalia NLRP6 34 35
  • 80.89 (n)
rat
(Rattus norvegicus)
Mammalia Nlrp6 34
  • 76.13 (n)
mouse
(Mus musculus)
Mammalia Nlrp6 34 16 35
  • 74.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 36 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 29 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-66k16.2 35
  • 26 (a)
ManyToMany
CU693495.1 35
  • 23 (a)
ManyToMany
nlrb5 35
  • 22 (a)
ManyToMany
si:ch211-66k16.28 35
  • 15 (a)
ManyToMany
Species where no ortholog for NLRP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NLRP6 Gene

ENSEMBL:
Gene Tree for NLRP6 (if available)
TreeFam:
Gene Tree for NLRP6 (if available)

Paralogs for NLRP6 Gene

(3) SIMAP similar genes for NLRP6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NLRP6: view

Variants for NLRP6 Gene

Sequence variations from dbSNP and Humsavar for NLRP6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs199475788 untested 278,404(+) GCCAC(A/G)GTGCC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs199475789 untested 278,820(+) CCCCA(A/G)GCTGG intron-variant, upstream-variant-2KB
rs199475790 untested 278,848(+) CAGGG(A/G)TGGGG intron-variant, upstream-variant-2KB
rs199475791 untested 278,992(+) GGCAT(A/G)TGACC intron-variant, upstream-variant-2KB
rs199475792 untested 279,056(+) TGCCC(C/G)CCAGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NLRP6 Gene

Variant ID Type Subtype PubMed ID
dgv1012n100 CNV gain 25217958
dgv1505n54 CNV gain 21841781
dgv186n67 CNV gain 20364138
esv32593 CNV loss 17666407
esv3891905 CNV gain 25118596
nsv1052484 CNV gain 25217958
nsv482153 CNV gain 20164927
nsv552765 CNV gain 21841781
nsv552766 CNV loss 21841781
nsv7212 OTHER inversion 18451855

Variation tolerance for NLRP6 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NLRP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP6 Gene

Disorders for NLRP6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NLRP6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
subclavian steal syndrome
  • subclavian artery stenosis
lateral myocardial infarction
  • lateral myocardial infarction nos
pericardium disease
- elite association - COSMIC cancer census association via MalaCards
Search NLRP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NLRP6

Genetic Association Database (GAD)
NLRP6
Human Genome Epidemiology (HuGE) Navigator
NLRP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRP6
genes like me logo Genes that share disorders with NLRP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRP6 Gene

Publications for NLRP6 Gene

  1. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J. … Burns K. (Nat. Rev. Mol. Cell Biol. 2003) 2 3 4 64
  2. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PMID: 12019269) Wang L. … Bertin J. (J. Biol. Chem. 2002) 2 3 4 64
  3. Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. (PMID: 12387869) Grenier J.M. … Bertin J. (FEBS Lett. 2002) 3 4 22 64
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings J.R. … Jewell D.P. (Tissue Antigens 2010) 3 46 64
  5. Role of Nlrp6 and Nlrp12 in the maintenance of intestinal homeostasis. (PMID: 24338634) Chen G.Y. (Eur. J. Immunol. 2014) 3 64

Products for NLRP6 Gene

Sources for NLRP6 Gene

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